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Carrier Screening

What is Carrier Screening

Carrier screening provides you and your doctor with information about your risks of having a child with a serious genetic disease prior to or during pregnancy. Although most babies are born healthy, there is a small chance of having a baby with a severe genetic disease. Carrier screening helps determine what this chance is specifically for you.

What are the main reasons why people have carrier screening?

People have carrier screening for many reasons, including if they are planning a pregnancy, have a family history of a genetic disorder, are at an increased risk for a specific condition based on ethnicity or would like additional information on reproductive risks.

How do you know whether you should have genetic carrier screening? Are there any symptoms?

Anyone can be a carrier of a genetic disease, even if no one in your family is affected. Most people don’t know they are carriers until after they’ve had a screening because carriers don’t have symptoms. The chance of being a carrier is based on your ethnic background and family history; however, some diseases, such as cystic fibrosis, are fairly common regardless of these factors.

What are the main genetic diseases that can be screened for?

Oxy-Gen Laboratories provides carrier screening for all 23 disorders recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG) and by national Jewish advocacy groups. This includes cystic fibrosis, sickle cell anemia, Tay-Sach’s disease and others.

How is carrier screening carried out and how long does it take?

Carrier screening is done through a simple saliva test. After your doctor decides which tests are appropriate for you, he or she will request a small saliva sample and send them to the lab for testing. It typically takes about two weeks to get your test results.

What happens once you are given the results? In particular, what happens if both partners test positive for the same disease?

If you are a carrier, the next step is to have your reproductive partner tested. Being a carrier of a genetic disease generally does not affectone’s individual health. However, being a carrier does mean that there is an increased chance for your children to have the disease. Even with two positive partners, there is still only a 25 percent chance that the child will be affected.